Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 57

Term ID
DOID:0070430
Synonyms
  • COXPD57
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/35147173/
References
Ontology
Human Disease   ( DOID:0070430 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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